Mutagenetix > Incidental Mutations

Incidental Mutation 'R1004:Zfp235'

97952

Institutional Source

Beutler Lab

Gene Symbol

Zfp235

Ensembl Gene

ENSMUSG00000047603

Gene Name

zinc finger protein 235

Synonyms

MMRRC Submission

039114-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1004 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24134169-24143241 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24140744 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 266 (L266Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056549] [ENSMUST00000205680]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056549
AA Change: L196Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050803
Gene: ENSMUSG00000047603
AA Change: L196Q

Domain	Start	End	E-Value	Type
KRAB	8	71	1.09e-15	SMART
ZnF_C2H2	283	305	1.79e-2	SMART
ZnF_C2H2	311	333	3.16e-3	SMART
ZnF_C2H2	339	361	1.18e-2	SMART
ZnF_C2H2	367	389	6.99e-5	SMART
ZnF_C2H2	395	417	1.33e-1	SMART
ZnF_C2H2	423	445	3.16e-3	SMART
ZnF_C2H2	451	473	2.84e-5	SMART
ZnF_C2H2	479	501	6.32e-3	SMART
ZnF_C2H2	507	529	3.44e-4	SMART
ZnF_C2H2	535	557	2.12e-4	SMART
ZnF_C2H2	563	585	1.38e-3	SMART
ZnF_C2H2	591	613	2.27e-4	SMART
ZnF_C2H2	619	641	5.99e-4	SMART
ZnF_C2H2	647	669	5.9e-3	SMART
ZnF_C2H2	675	697	4.87e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000205680
AA Change: L266Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206809

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,151,954	I423T	possibly damaging	Het
Agbl3	A	T	6: 34,803,451	E453V	probably damaging	Het
Agxt	A	G	1: 93,135,699	M108V	possibly damaging	Het
Akap13	T	C	7: 75,687,286	I831T	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arid1a	A	G	4: 133,687,275	M1215T	unknown	Het
Cd163	G	T	6: 124,325,347	D957Y	probably damaging	Het
Ces2e	A	G	8: 104,929,738	D200G	probably damaging	Het
Cfap54	T	C	10: 93,066,696		probably benign	Het
Col11a1	A	G	3: 114,095,022		probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Dpp4	T	A	2: 62,332,640	Q754L	probably benign	Het
Ece1	A	G	4: 137,926,239	T100A	probably benign	Het
Gabbr2	C	T	4: 46,677,544	V779M	possibly damaging	Het
Gatm	C	T	2: 122,609,660		probably benign	Het
Gm20767	T	A	13: 120,155,022	D132E	probably benign	Het
Gpc2	A	G	5: 138,278,225	L213P	probably damaging	Het
Hook1	A	C	4: 96,022,287	N713H	probably benign	Het
Kdm5b	T	A	1: 134,588,904	I178K	possibly damaging	Het
Mettl9	G	A	7: 121,076,237	V287I	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mycbp2	G	A	14: 103,140,917	T3774I	probably benign	Het
Nupl1	C	A	14: 60,247,481		probably benign	Het
Nxf1	A	T	19: 8,764,317	T119S	probably benign	Het
Oaz3	T	A	3: 94,435,043	H102L	probably damaging	Het
Olfr971	T	C	9: 39,839,980	F182S	probably benign	Het
Pfpl	A	T	19: 12,430,425	Q680L	probably benign	Het
Poli	T	A	18: 70,525,438	Q75L	probably benign	Het
Ppp2r3a	C	T	9: 101,198,630		probably null	Het
Prr30	A	G	14: 101,199,093	L11P	probably damaging	Het
Ptchd4	A	T	17: 42,377,602	Y345F	probably benign	Het
Ric1	A	G	19: 29,602,357	N1233S	probably benign	Het
Serpinb9f	TA	"TTTNA,T"	13: 33,334,242		probably benign	Het
Sh3bgrl2	C	T	9: 83,577,631		probably benign	Het
Skp1a	G	C	11: 52,237,380		probably benign	Het
Slc12a9	T	C	5: 137,322,524	K528R	probably damaging	Het
Slc22a6	A	G	19: 8,618,399	N35S	probably damaging	Het
Xrcc5	A	G	1: 72,383,778		probably benign	Het
Zfp600	T	A	4: 146,196,533		probably benign	Het

Other mutations in Zfp235

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Zfp235	APN	7	24137080	missense	probably damaging	1.00
IGL02326:Zfp235	APN	7	24135302	start codon destroyed	probably null	0.98
R0107:Zfp235	UTSW	7	24137116	missense	probably damaging	1.00
R0271:Zfp235	UTSW	7	24137131	missense	possibly damaging	0.93
R0513:Zfp235	UTSW	7	24142219	missense	probably damaging	1.00
R1928:Zfp235	UTSW	7	24141138	nonsense	probably null
R1958:Zfp235	UTSW	7	24140346	missense	probably damaging	0.98
R2167:Zfp235	UTSW	7	24140962	missense	possibly damaging	0.80
R2511:Zfp235	UTSW	7	24142124	missense	probably damaging	1.00
R3013:Zfp235	UTSW	7	24140732	missense	probably damaging	0.98
R3806:Zfp235	UTSW	7	24140621	missense	probably benign	0.01
R4613:Zfp235	UTSW	7	24141676	missense	probably damaging	1.00
R4876:Zfp235	UTSW	7	24140959	missense	probably benign	0.01
R4977:Zfp235	UTSW	7	24142184	missense	possibly damaging	0.94
R5085:Zfp235	UTSW	7	24137121	missense	probably damaging	0.96
R5664:Zfp235	UTSW	7	24142151	missense	probably damaging	1.00
R6440:Zfp235	UTSW	7	24140615	missense	probably damaging	0.96
R6650:Zfp235	UTSW	7	24137038	splice site	probably null
R7694:Zfp235	UTSW	7	24142100	missense	probably benign	0.37
R8031:Zfp235	UTSW	7	24141689	missense	probably benign	0.19
R8188:Zfp235	UTSW	7	24141871	missense	probably damaging	1.00
R8744:Zfp235	UTSW	7	24140499	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- ACAAGCGATCATTCCAGCATTACCG -3'
(R):5'- AGCCTTGCCACACTCTTGACAC -3'

Sequencing Primer
(F):5'- TTCCAGCATTACCGAAAATCAGG -3'
(R):5'- GGACTTATTTCCTAAGAGGACCTGC -3'

Posted On

2014-01-05